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Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Toppari, Jorma

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2191-0251
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In This Section
Volume 23, Issue 8 (Jan 2010)

Issues

Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

Nikta Forghani
  • Department of Pediatrics, Stanford University School of Medicine, Stanford CA 94305
/ Catherine Lum
  • Pediatric Endocrinology, University of California Davis Medical Center, Sacramento, CA 95817
/ Sowmya Krishnan
  • Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104
/ Jining Wang
  • Department of Medicine, Stanford University School of Medicine, Stanford CA 94305
/ Darrel M. Wilson
  • Department of Pediatrics, Stanford University School of Medicine, Stanford CA 94305
/ Piers R. Blackett
  • Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104
/ Peter J. Malloy
  • Corresponding author
  • Department of Medicine, Stanford University School of Medicine, Stanford CA 94305
/ David Feldman
  • Department of Medicine, Stanford University School of Medicine, Stanford CA 94305
Published Online: 2010-09-17 | DOI: https://doi.org/10.1515/jpem.2010.136

ABSTRACT

1,25-Dihydroxyvitamin D3 (1,25(OH)2D3) an important regulator of bone homeostasis, mediates its actions by binding to the vitamin D receptor (VDR), a nuclear transcription factor. Mutations in the VDR cause the rare genetic disease hereditary vitamin D resistant rickets (HVDRR). In this study, we examined two unrelated young female patients who exhibited severe early onset rickets, hypocalcemia, and hypophosphatemia. Both patients had partial alopecia but with different unusual patterns of scant hair. Sequencing of the VDR gene showed that both patients harbored the same unique nonsense mutation that resulted in a premature stop codon (R50X). Skin fibroblasts from patient #1 were devoid of VDR protein and 1,25(OH)2D3 treatment of these cells failed to induce CYP24A1 gene expression, a marker of 1,25(OH)2D3 action. In conclusion, we identified a novel nonsense mutation in the VDR gene in two patients with HVDRR and alopecia. The mutation truncates the VDR protein and causes 1,25(OH)2D3 resistance.

KEY WORDS: calcitriol; calcium; hair; intravenous therapy; PTH

About the article

Corresponding author: Peter J. Malloy, PhD.,


Published Online: 2010-09-17

Published in Print: 2010-08-01



Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem.2010.136. Export Citation

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